Utah Kids Foundation - Kid of the Month - December 2015

My daughter is Zoey, she will be turning 3 this december and she was originally diagnosed with infantile Spasms. She was diagnosed at 6 months old with no know reason. After struggling through lots of different medications. ACTH helped her stop the spasms. A few months later Zoey started to do more spasm looking things again so after more tests, blood work, EEG and MRI we were told that her brain has epileptic tendencies, but doesn't have seizures. We are still having trouble understanding this because of all the videos and opinions from other families, she looks likes she is having seizures.

After doing a bit of research and a a false positive diagnosis of Rett syndrome, we decided we wanted to dig more into what Rett Syndrome was and get her re-tested. That is where we are now, waiting for February to come to meet with a genetic counselor and doing more DNA testing to give us an official yes or no to Retts. The unknown is difficult, but my little Zoey bug is a pretty happy kid. She loves anything to do with water and climbing. Not a good mix, so she keeps us on our toes!

 To get all of zoeys story you can go to:

 www.babyzoeystory.blogspot.com

November Spotlight - Chronic Recurrent Multifocal Osteomyelitis

Meet 9 Year old Holden (AKA my little squish). Holden is a very smart, strong, sensitive and compassionate boy. Holden lives with many different conditions. A lot of his diagnoses were a gradual process of putting pieces together. Sometimes it still feels like we are working on that 1,000 piece puzzle and only get one piece at a time.

 From the time he was born Holden suffered from chronic infections. As time went on I could tell other things didn’t seem to quite add up. At the age of 2 Holden was diagnosed as speech delayed and by the age of three diagnosed with Sensory Processing Disorder. Along the way we continued to battle with infections and he began experiencing other health concerns regarding his bones. At the age of 5 a lot of things came together all at one time. In May that year he was diagnosed with a Primary Immune Deficiency Disorder called hypogammaglobulinemia. Meaning his body does not make antibodies to fight infection. He currently receives Plasma infusions every three weeks through a port a cath. By that fall things began to crash and he was diagnosed as a Type 1 diabetic. In the meantime we were still dealing with muscle weakness, bone disorders and failure to thrive issues.

By early the next spring and through a long string of several doctors Holden was also diagnosed with a rare bone disorder called Chronic Recurrent Multifocal Osteomyelitis –CRMO. Holden has gone through countless surgeries, scans, blood draws, lots of trial and error of medications, you name it. Holden also battles with generalized anxiety disorder and ADHD.

Despite Holden’s challenges he was dealt his is a very happy boy. He LOVES Lego’s, his friends, playing board games with the family, Minecraft and playing kickball. Above all Holden has learned compassion. It is amazing to watch him truly feel what others are going through and often says he wishes he could take it from them or wishes it was him. He’s my hero!

 

Utah Kids Foundation - Kid of the Month - November 2015

Our little Lukas is a 5 year old bundle of energy. He has primary Microcephaly due to a recessive gene both parents must be carriers of. Micro-what-a-ly? Microcephaly, micro for small; cephaly for brain. Luke's brain slowed down during gestation, and has completely stopped growing. His head measures less than half the circumference of his peers. He also has an agenesis of the corpum callosum, and a portion of his cerebellum that didn't form properly. His other diagnoses include: seizure disorder, MPA, FTT (gj Tube fed), growth hormone deficiency (pituitary dwarfism), sensory issues, impulse control disorder, "off the charts" ADHD. He is suspected, but not confirmed to have: meckels diverticulum, selective mutism, OCD, pica, gastroparesis/ psuedo obstruction, vomitous continuous (ha-ha, I made that one up, because I swear it's a real thing. ) He likes watermelon, carrots water and broccoli, (pretty much the foods with no calories) and only eats by mouth a few times a month. He loves cars and trains and would probably watch them all day if we let him. He finds creative ways of communicating to us all the time. He is in alternative kindergarten this year. His teacher says he is the class clown, and they can't get him to stop swatting at all of the female teacher's butts. You may have seen us at primaries or at various IHC Instacares before. He is the bright blue-eyed dwarf that that likes to take his clothes off and go streaking. That's our Luke, we love the craziness and joy he blesses our home with.


Love sent from,

Jaime and Jeff LeFevre